Mutagenetix > Incidental Mutation

Incidental Mutation 'R1513:Slc33a1'

168490

Institutional Source

Beutler Lab

Gene Symbol

Slc33a1

Ensembl Gene

ENSMUSG00000027822

Gene Name

solute carrier family 33 (acetyl-CoA transporter), member 1

Synonyms

Acatn, D630022N01Rik

MMRRC Submission

039560-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.687) question?

Stock #

R1513 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63849744-63872154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63871376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 79 (L79P)

Ref Sequence

ENSEMBL: ENSMUSP00000123986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029402] [ENSMUST00000160883] [ENSMUST00000161659]

AlphaFold

Q99J27

Predicted Effect

probably damaging
Transcript: ENSMUST00000029402
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029402
Gene: ENSMUSG00000027822
AA Change: L79P

Domain	Start	End	E-Value	Type
Pfam:Acatn	74	292	2.4e-77	PFAM
Pfam:Acatn	282	546	7.1e-51	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160883
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125713
Gene: ENSMUSG00000027822
AA Change: L79P

Domain	Start	End	E-Value	Type
Pfam:Acatn	74	290	6e-61	PFAM
transmembrane domain	299	321	N/A	INTRINSIC
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:Acatn	374	547	3.7e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161659
AA Change: L79P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123986
Gene: ENSMUSG00000027822
AA Change: L79P

Domain	Start	End	E-Value	Type
Pfam:Acatn	74	290	6e-61	PFAM
transmembrane domain	299	321	N/A	INTRINSIC
transmembrane domain	345	367	N/A	INTRINSIC
Pfam:Acatn	374	547	3.7e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181653

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192898

Meta Mutation Damage Score

0.9093

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a serine to arginine substitution at amino acid 113 show early embryonic growth arrest. Adult heterozygotes display aberrant inflammatory response, increased propensity to infections and malignancies, degenerative features of the PNS and CNS, and abnormal induction of autophagy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	T	5: 114,947,334 (GRCm39)	C64*	probably null	Het
1700003H04Rik	A	C	3: 124,368,985 (GRCm39)	Y109D	possibly damaging	Het
Abca15	A	T	7: 119,939,322 (GRCm39)	I239F	probably damaging	Het
Adgrv1	A	G	13: 81,741,167 (GRCm39)	V99A	probably damaging	Het
Adgrv1	A	T	13: 81,705,076 (GRCm39)	I1578K	probably damaging	Het
Ap4e1	G	T	2: 126,903,475 (GRCm39)	K792N	probably null	Het
Ap5b1	G	A	19: 5,619,892 (GRCm39)	W437*	probably null	Het
Arhgef17	A	G	7: 100,580,069 (GRCm39)	L293P	probably benign	Het
Arhgef33	A	C	17: 80,678,818 (GRCm39)	M505L	probably benign	Het
Arih1	T	A	9: 59,310,663 (GRCm39)	R320S	probably damaging	Het
Atp1b3	A	T	9: 96,246,206 (GRCm39)	M1K	probably null	Het
Bbs2	T	C	8: 94,816,472 (GRCm39)	D130G	possibly damaging	Het
Bscl2	G	A	19: 8,818,509 (GRCm39)	R38H	probably damaging	Het
Cad	A	G	5: 31,226,106 (GRCm39)	Y1102C	probably damaging	Het
Cc2d1b	G	A	4: 108,490,423 (GRCm39)	R825Q	probably damaging	Het
Ccdc39	A	G	3: 33,893,294 (GRCm39)	V97A	possibly damaging	Het
Ccr1	T	C	9: 123,764,510 (GRCm39)	T7A	probably benign	Het
Cd33	A	G	7: 43,181,618 (GRCm39)	S181P	probably damaging	Het
Cdc20	A	C	4: 118,290,304 (GRCm39)	S452R	probably damaging	Het
Cdk8	A	T	5: 146,233,188 (GRCm39)	I229F	possibly damaging	Het
Ces3a	A	T	8: 105,776,909 (GRCm39)	N131Y	probably damaging	Het
Cgnl1	A	G	9: 71,631,872 (GRCm39)	I493T	probably benign	Het
Chia1	G	A	3: 106,039,220 (GRCm39)	V437M	probably benign	Het
Chrna2	G	A	14: 66,380,878 (GRCm39)	R49H	probably benign	Het
Clec12b	A	G	6: 129,353,265 (GRCm39)	C241R	probably damaging	Het
Col11a1	A	G	3: 113,890,803 (GRCm39)	D380G	unknown	Het
Crebbp	A	G	16: 3,933,749 (GRCm39)	S948P	probably damaging	Het
Dchs1	G	A	7: 105,421,278 (GRCm39)	R381*	probably null	Het
Defb19	A	T	2: 152,418,085 (GRCm39)	*84R	probably null	Het
Dnah8	T	C	17: 30,892,862 (GRCm39)	F816L	probably benign	Het
Dync2h1	T	A	9: 7,103,663 (GRCm39)	I371F	possibly damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fggy	T	C	4: 95,790,295 (GRCm39)		probably benign	Het
Galnt12	G	A	4: 47,117,956 (GRCm39)	C125Y	probably damaging	Het
Gm4952	A	T	19: 12,602,039 (GRCm39)	D149V	probably damaging	Het
Gm6309	A	T	5: 146,107,393 (GRCm39)	H37Q	possibly damaging	Het
Gmnn	A	G	13: 24,940,615 (GRCm39)	L78P	possibly damaging	Het
Golga4	C	A	9: 118,384,800 (GRCm39)	Q613K	probably benign	Het
Iqgap2	A	T	13: 95,766,518 (GRCm39)	I1495K	probably damaging	Het
Junb	T	C	8: 85,704,758 (GRCm39)	T101A	probably damaging	Het
Kif21b	T	C	1: 136,083,849 (GRCm39)	Y699H	probably damaging	Het
Klf17	T	C	4: 117,618,132 (GRCm39)	E75G	probably damaging	Het
Klra17	T	C	6: 129,849,277 (GRCm39)	E99G	possibly damaging	Het
Knop1	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	7: 118,451,672 (GRCm39)		probably benign	Het
Krt87	C	T	15: 101,387,538 (GRCm39)	V167M	probably benign	Het
Lce1m	A	G	3: 92,925,932 (GRCm39)		probably benign	Het
Lpin3	A	T	2: 160,746,468 (GRCm39)	Y709F	probably damaging	Het
Ltbp2	T	A	12: 84,838,718 (GRCm39)	D1080V	probably damaging	Het
Mycbp2	G	A	14: 103,441,825 (GRCm39)	T1980I	probably damaging	Het
Myo1g	T	A	11: 6,465,140 (GRCm39)	K435M	probably damaging	Het
Mypn	T	A	10: 63,005,147 (GRCm39)	N320I	probably damaging	Het
Naip5	A	T	13: 100,358,714 (GRCm39)	W841R	probably benign	Het
Ncapd2	A	T	6: 125,147,955 (GRCm39)	M1124K	probably damaging	Het
Ncf4	A	G	15: 78,146,560 (GRCm39)	D330G	probably benign	Het
Ndst3	C	T	3: 123,395,104 (GRCm39)	V509M	possibly damaging	Het
Neb	A	T	2: 52,117,256 (GRCm39)	D4105E	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Nsrp1	A	T	11: 76,937,445 (GRCm39)	F250L	probably benign	Het
Or11g7	A	G	14: 50,691,138 (GRCm39)	I210V	probably benign	Het
Or4l15	T	C	14: 50,198,558 (GRCm39)		probably null	Het
Or52d1	C	T	7: 103,755,671 (GRCm39)	L62F	probably benign	Het
Or52k2	G	T	7: 102,254,509 (GRCm39)	G316V	probably benign	Het
Or5m12	A	T	2: 85,735,015 (GRCm39)	Y128N	probably damaging	Het
Or8k3b	C	T	2: 86,521,141 (GRCm39)	M59I	possibly damaging	Het
Oxr1	A	G	15: 41,660,870 (GRCm39)	D67G	probably damaging	Het
P2ry12	A	T	3: 59,125,498 (GRCm39)	I59N	probably damaging	Het
Pcdhb12	G	T	18: 37,570,111 (GRCm39)	G419V	probably damaging	Het
Pdzd2	G	T	15: 12,373,915 (GRCm39)	S2073R	possibly damaging	Het
Pex5l	C	A	3: 33,069,162 (GRCm39)	E112*	probably null	Het
Plaur	A	G	7: 24,172,016 (GRCm39)	D163G	probably benign	Het
Plk2	A	G	13: 110,536,622 (GRCm39)	Y638C	probably benign	Het
Ppp1r15b	A	G	1: 133,061,088 (GRCm39)	N535S	probably benign	Het
Ppp2r1b	T	C	9: 50,781,445 (GRCm39)	L21P	probably damaging	Het
Prkar2a	G	A	9: 108,605,469 (GRCm39)	V176I	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rag1	A	G	2: 101,473,336 (GRCm39)	M602T	possibly damaging	Het
Rb1	A	G	14: 73,559,524 (GRCm39)	V60A	probably benign	Het
Rgs20	T	A	1: 4,982,560 (GRCm39)	I303F	probably damaging	Het
Rnf43	T	A	11: 87,620,257 (GRCm39)	I240N	probably damaging	Het
Romo1	G	A	2: 155,986,433 (GRCm39)	V19M	probably benign	Het
Ryr1	A	G	7: 28,770,046 (GRCm39)	S2676P	probably damaging	Het
Ryr3	G	A	2: 112,539,542 (GRCm39)	Q3233*	probably null	Het
Skic2	G	T	17: 35,066,420 (GRCm39)	P188T	probably damaging	Het
Slc26a6	A	G	9: 108,733,035 (GRCm39)	R5G	probably benign	Het
Snx31	G	A	15: 36,545,745 (GRCm39)	R91C	probably damaging	Het
Tecpr2	T	C	12: 110,921,234 (GRCm39)	I1269T	possibly damaging	Het
Tjap1	G	T	17: 46,572,368 (GRCm39)	D89E	probably benign	Het
Tmem53	A	T	4: 117,123,090 (GRCm39)	Q39L	probably damaging	Het
Tmod1	G	T	4: 46,083,549 (GRCm39)	V95F	possibly damaging	Het
Trim30c	A	C	7: 104,031,896 (GRCm39)	H306Q	probably benign	Het
Trpm3	A	T	19: 22,964,236 (GRCm39)	M1244L	possibly damaging	Het
Tspan32	A	G	7: 142,558,886 (GRCm39)	I14V	probably null	Het
Ube4b	A	G	4: 149,436,035 (GRCm39)	V695A	probably benign	Het
Ubxn11	G	A	4: 133,851,452 (GRCm39)		probably null	Het
Ugt3a1	A	G	15: 9,361,610 (GRCm39)	I129V	probably benign	Het
Vmn1r45	A	G	6: 89,910,058 (GRCm39)	V304A	probably damaging	Het
Vmn2r124	A	T	17: 18,283,535 (GRCm39)	S410C	probably damaging	Het
Vmn2r15	T	A	5: 109,441,195 (GRCm39)	D221V	probably damaging	Het
Vmn2r79	G	A	7: 86,686,652 (GRCm39)	V678I	probably benign	Het
Vps13b	A	T	15: 35,438,876 (GRCm39)	R319*	probably null	Het
Wdr95	G	A	5: 149,522,759 (GRCm39)	R639Q	probably benign	Het
Xirp2	A	G	2: 67,341,874 (GRCm39)	I1372V	probably benign	Het
Xpo5	T	A	17: 46,537,906 (GRCm39)	M611K	probably benign	Het
Zfat	A	G	15: 68,084,529 (GRCm39)	C121R	probably damaging	Het
Zfp382	A	T	7: 29,832,721 (GRCm39)	Y124F	probably benign	Het
Zfp512b	A	G	2: 181,230,982 (GRCm39)	F371S	probably benign	Het
Zfy2	A	G	Y: 2,116,185 (GRCm39)	V285A	probably benign	Het

Other mutations in Slc33a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Slc33a1	APN	3	63,871,433 (GRCm39)	missense	probably benign
IGL01361:Slc33a1	APN	3	63,850,833 (GRCm39)	missense	probably damaging	0.96
IGL01564:Slc33a1	APN	3	63,850,768 (GRCm39)	missense	probably benign	0.01
IGL02027:Slc33a1	APN	3	63,855,562 (GRCm39)	missense	probably damaging	1.00
IGL02598:Slc33a1	APN	3	63,850,753 (GRCm39)	missense	probably benign
IGL02877:Slc33a1	APN	3	63,850,806 (GRCm39)	missense	probably benign
IGL03196:Slc33a1	APN	3	63,871,151 (GRCm39)	missense	possibly damaging	0.46
IGL03269:Slc33a1	APN	3	63,871,178 (GRCm39)	missense	probably damaging	0.98
skeletor	UTSW	3	63,852,122 (GRCm39)	missense	possibly damaging	0.89
R0973:Slc33a1	UTSW	3	63,850,725 (GRCm39)	missense	probably benign	0.02
R0973:Slc33a1	UTSW	3	63,850,725 (GRCm39)	missense	probably benign	0.02
R0974:Slc33a1	UTSW	3	63,850,725 (GRCm39)	missense	probably benign	0.02
R1171:Slc33a1	UTSW	3	63,861,315 (GRCm39)	missense	probably benign
R1618:Slc33a1	UTSW	3	63,855,650 (GRCm39)	missense	possibly damaging	0.66
R2038:Slc33a1	UTSW	3	63,855,577 (GRCm39)	missense	probably damaging	1.00
R2095:Slc33a1	UTSW	3	63,871,376 (GRCm39)	missense	probably damaging	1.00
R3927:Slc33a1	UTSW	3	63,871,145 (GRCm39)	missense	probably benign	0.19
R5204:Slc33a1	UTSW	3	63,871,167 (GRCm39)	missense	probably damaging	1.00
R6371:Slc33a1	UTSW	3	63,850,709 (GRCm39)	missense	probably benign
R6425:Slc33a1	UTSW	3	63,871,484 (GRCm39)	missense	probably benign
R6641:Slc33a1	UTSW	3	63,861,327 (GRCm39)	missense	probably benign	0.09
R6709:Slc33a1	UTSW	3	63,852,122 (GRCm39)	missense	possibly damaging	0.89
R6866:Slc33a1	UTSW	3	63,850,744 (GRCm39)	missense	probably benign	0.02
R7360:Slc33a1	UTSW	3	63,855,075 (GRCm39)	missense	possibly damaging	0.87
R7768:Slc33a1	UTSW	3	63,855,039 (GRCm39)	missense	possibly damaging	0.69
R8560:Slc33a1	UTSW	3	63,850,773 (GRCm39)	missense	possibly damaging	0.82
R9195:Slc33a1	UTSW	3	63,871,188 (GRCm39)	missense	probably damaging	1.00
R9747:Slc33a1	UTSW	3	63,861,424 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATATTTCCGAGCAAACGGTCCAC -3'
(R):5'- ATCTGGCTCCCTGCTGCAAAAC -3'

Sequencing Primer
(F):5'- TGCGACGACCAAAGTTCTTAAAG -3'
(R):5'- TTTAGCCACGCTCTGGATATGAAG -3'

Posted On

2014-04-13